Incidental Mutation 'R4506:Slc7a5'
ID |
332019 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc7a5
|
Ensembl Gene |
ENSMUSG00000040010 |
Gene Name |
solute carrier family 7 (cationic amino acid transporter, y+ system), member 5 |
Synonyms |
D0H16S474E, Gm42049, TA1, LAT1 |
MMRRC Submission |
041584-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4506 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
122607885-122634425 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to T
at 122614234 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041557
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045557]
[ENSMUST00000127664]
|
AlphaFold |
Q9Z127 |
Predicted Effect |
probably null
Transcript: ENSMUST00000045557
|
SMART Domains |
Protein: ENSMUSP00000041557 Gene: ENSMUSG00000040010
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
27 |
N/A |
INTRINSIC |
Pfam:AA_permease_2
|
51 |
481 |
4.2e-65 |
PFAM |
Pfam:AA_permease
|
56 |
489 |
1.6e-29 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127664
|
SMART Domains |
Protein: ENSMUSP00000118564 Gene: ENSMUSG00000092329
Domain | Start | End | E-Value | Type |
Pfam:Glycos_transf_2
|
104 |
287 |
7.4e-31 |
PFAM |
Pfam:Glyco_transf_7C
|
261 |
331 |
4.9e-8 |
PFAM |
RICIN
|
406 |
531 |
9.28e-27 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182165
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183015
|
Meta Mutation Damage Score |
0.9594 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
98% (42/43) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a targeted mutation die prenatally. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700012B07Rik |
G |
T |
11: 109,685,087 (GRCm39) |
P137T |
probably damaging |
Het |
Abcc5 |
A |
T |
16: 20,152,445 (GRCm39) |
I1367N |
probably damaging |
Het |
Ace |
T |
A |
11: 105,867,492 (GRCm39) |
L152Q |
probably damaging |
Het |
Adam19 |
G |
A |
11: 46,009,271 (GRCm39) |
D232N |
possibly damaging |
Het |
Anapc4 |
A |
T |
5: 52,993,072 (GRCm39) |
N61I |
possibly damaging |
Het |
Ap5m1 |
T |
C |
14: 49,311,218 (GRCm39) |
V96A |
probably damaging |
Het |
Atr |
T |
A |
9: 95,747,290 (GRCm39) |
C191S |
probably benign |
Het |
Carmil3 |
GGACGA |
GGA |
14: 55,736,933 (GRCm39) |
|
probably benign |
Het |
Cnot6l |
A |
T |
5: 96,234,033 (GRCm39) |
V326E |
possibly damaging |
Het |
Fcer2a |
A |
T |
8: 3,738,603 (GRCm39) |
|
probably null |
Het |
Fgfr3 |
A |
G |
5: 33,887,343 (GRCm39) |
T221A |
probably damaging |
Het |
Gm6632 |
C |
T |
5: 59,211,821 (GRCm39) |
|
noncoding transcript |
Het |
Gpr158 |
T |
A |
2: 21,831,810 (GRCm39) |
M970K |
probably damaging |
Het |
H2-T5 |
A |
T |
17: 36,472,372 (GRCm39) |
|
probably benign |
Het |
Ip6k3 |
A |
T |
17: 27,364,154 (GRCm39) |
L298Q |
possibly damaging |
Het |
Itpr1 |
A |
G |
6: 108,409,647 (GRCm39) |
D1727G |
probably damaging |
Het |
Kdm2b |
T |
C |
5: 123,026,688 (GRCm39) |
T589A |
possibly damaging |
Het |
Krtcap2 |
A |
G |
3: 89,153,563 (GRCm39) |
|
probably benign |
Het |
Map3k13 |
A |
G |
16: 21,740,928 (GRCm39) |
S752G |
probably benign |
Het |
Mvb12a |
G |
T |
8: 71,996,103 (GRCm39) |
A86S |
probably benign |
Het |
Nktr |
T |
A |
9: 121,577,949 (GRCm39) |
|
probably benign |
Het |
Or1e33 |
A |
T |
11: 73,738,521 (GRCm39) |
C143* |
probably null |
Het |
Or8a1b |
C |
T |
9: 37,622,760 (GRCm39) |
V272I |
probably benign |
Het |
Parp4 |
T |
A |
14: 56,889,761 (GRCm39) |
N1847K |
unknown |
Het |
Pcdhga8 |
G |
C |
18: 37,949,816 (GRCm39) |
V411L |
probably damaging |
Het |
Piwil4 |
T |
C |
9: 14,637,259 (GRCm39) |
T352A |
probably damaging |
Het |
Ric8a |
A |
G |
7: 140,438,429 (GRCm39) |
I223V |
probably benign |
Het |
Slc25a51 |
C |
T |
4: 45,399,768 (GRCm39) |
V141M |
probably benign |
Het |
Slc7a9 |
A |
T |
7: 35,152,845 (GRCm39) |
T88S |
probably damaging |
Het |
Tbrg1 |
T |
A |
9: 37,565,691 (GRCm39) |
E87V |
probably damaging |
Het |
Tnfsf4 |
T |
C |
1: 161,244,745 (GRCm39) |
S145P |
probably damaging |
Het |
Tomm34 |
C |
A |
2: 163,896,292 (GRCm39) |
|
probably null |
Het |
Trpv3 |
A |
G |
11: 73,186,150 (GRCm39) |
N647S |
probably benign |
Het |
Upf1 |
G |
A |
8: 70,790,216 (GRCm39) |
R637C |
probably damaging |
Het |
Vmn2r23 |
A |
T |
6: 123,679,884 (GRCm39) |
Q35H |
probably damaging |
Het |
Wdtc1 |
C |
T |
4: 133,036,130 (GRCm39) |
V137M |
probably damaging |
Het |
Zfp276 |
G |
A |
8: 123,991,666 (GRCm39) |
|
probably null |
Het |
Zfp90 |
C |
T |
8: 107,151,496 (GRCm39) |
P403L |
possibly damaging |
Het |
|
Other mutations in Slc7a5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02192:Slc7a5
|
APN |
8 |
122,613,129 (GRCm39) |
intron |
probably benign |
|
R0364:Slc7a5
|
UTSW |
8 |
122,611,754 (GRCm39) |
missense |
probably benign |
|
R0580:Slc7a5
|
UTSW |
8 |
122,611,855 (GRCm39) |
missense |
probably benign |
0.21 |
R0965:Slc7a5
|
UTSW |
8 |
122,633,840 (GRCm39) |
missense |
probably benign |
0.01 |
R1274:Slc7a5
|
UTSW |
8 |
122,610,453 (GRCm39) |
missense |
probably benign |
0.44 |
R2135:Slc7a5
|
UTSW |
8 |
122,610,444 (GRCm39) |
missense |
probably null |
0.96 |
R4163:Slc7a5
|
UTSW |
8 |
122,615,139 (GRCm39) |
missense |
probably benign |
0.00 |
R4910:Slc7a5
|
UTSW |
8 |
122,611,861 (GRCm39) |
missense |
probably damaging |
0.96 |
R5243:Slc7a5
|
UTSW |
8 |
122,623,274 (GRCm39) |
missense |
probably damaging |
1.00 |
R5449:Slc7a5
|
UTSW |
8 |
122,613,087 (GRCm39) |
missense |
probably damaging |
1.00 |
R5719:Slc7a5
|
UTSW |
8 |
122,610,381 (GRCm39) |
missense |
probably benign |
0.00 |
R5744:Slc7a5
|
UTSW |
8 |
122,615,121 (GRCm39) |
missense |
probably benign |
0.00 |
R7473:Slc7a5
|
UTSW |
8 |
122,615,162 (GRCm39) |
missense |
probably benign |
|
R7499:Slc7a5
|
UTSW |
8 |
122,610,461 (GRCm39) |
missense |
probably damaging |
1.00 |
R7663:Slc7a5
|
UTSW |
8 |
122,614,274 (GRCm39) |
nonsense |
probably null |
|
R7680:Slc7a5
|
UTSW |
8 |
122,634,006 (GRCm39) |
missense |
probably damaging |
1.00 |
R7682:Slc7a5
|
UTSW |
8 |
122,633,879 (GRCm39) |
missense |
probably damaging |
0.99 |
R8382:Slc7a5
|
UTSW |
8 |
122,612,691 (GRCm39) |
missense |
probably damaging |
1.00 |
R8405:Slc7a5
|
UTSW |
8 |
122,613,661 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8551:Slc7a5
|
UTSW |
8 |
122,613,050 (GRCm39) |
missense |
probably damaging |
0.99 |
R9513:Slc7a5
|
UTSW |
8 |
122,613,616 (GRCm39) |
missense |
probably benign |
0.00 |
R9727:Slc7a5
|
UTSW |
8 |
122,613,085 (GRCm39) |
missense |
probably benign |
0.35 |
|
Predicted Primers |
PCR Primer
(F):5'- GGTGCATACCCTAGACAAGTC -3'
(R):5'- TAGAGTGAGGAGCTGGTTCC -3'
Sequencing Primer
(F):5'- TAGACAAGTCCCCTCCAGCTG -3'
(R):5'- AGGGCTTCACATCCTGACTGTAAG -3'
|
Posted On |
2015-07-21 |